Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736193_153736194insG , CM000685.2:g.153736193_153736194insG | GRCh38 |
| NC_000023.10:g.153001647_153001648insG , CM000685.1:g.153001647_153001648insG | GRCh37 |
| NC_000023.9:g.152654841_152654842insG | NCBI36 |
| NG_009022.2:g.16326_16327insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1163_1164insG MANE Select | ENSP00000218104.3:p.Arg389ProfsTer12 | |
| ENST00000218104.5:c.1163_1164insG | ENSP00000218104.3:p.Arg389ProfsTer12 | |
| ENST00000443684.2:n.166_167insG | ||
| NM_000033.3:c.1163_1164insG | NP_000024.2:p.Arg389ProfsTer12 | |
| XR_938507.1:n.1579_1580insG | ||
| XR_938507.2:n.1579_1580insG | ||
| NM_000033.4:c.1163_1164insG MANE Select | NP_000024.2:p.Arg389ProfsTer12 |